Linked Data
ClinVar Variation Id:
261281
ClinVar RCV Id:
RCV000251529
dbSNP Id:
rs886038658
gnomAD v2:
1-26128655-T-A
gnomAD v3:
1-25802164-T-A
gnomAD v4:
1-25802164-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25802164T>A , CM000663.2:g.25802164T>A | GRCh38 |
| NC_000001.10:g.26128655T>A , CM000663.1:g.26128655T>A | GRCh37 |
| NC_000001.9:g.26001242T>A | NCBI36 |
| NG_009930.1:g.6989T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.301+1004T>A | ENSP00000346109.5:n.301+1004T>A | |
| ENST00000494537.2:c.301+1004T>A | ENSP00000508308.1:n.301+1004T>A | |
| ENST00000361547.7:c.403+47T>A MANE Select | ENSP00000355141.2:n.403+47T>A | |
| ENST00000354177.8:c.301+1004T>A | ENSP00000346109.4:n.301+1004T>A | |
| ENST00000361547.6:c.403+47T>A | ENSP00000355141.2:n.403+47T>A | |
| ENST00000374315.1:c.301+1004T>A | ENSP00000363434.1:n.301+1004T>A | |
| NM_020451.2:c.403+47T>A | NP_065184.2:n.403+47T>A | |
| NM_206926.1:c.301+1004T>A | NP_996809.1:n.301+1004T>A | |
| NM_020451.3:c.403+47T>A MANE Select | NP_065184.2:n.403+47T>A | |
| NM_206926.2:c.301+1004T>A | NP_996809.1:n.301+1004T>A |